Rebelo, Adriana P <br/><br/>
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.  [electronic resource] 

 -  Brain : a journal of neurology  03 2018 
 - 662-672 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. 
<br/><br/><label>ISSN: </label>1460-2156 
<br/><br/><label>Standard No.: </label>10.1093/brain/awx369  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Triphosphate--metabolism<br/>Adult<br/>Animals<br/>Axons--pathology<br/>Carrier Proteins--genetics<br/>Cells, Cultured<br/>Charcot-Marie-Tooth Disease--complications<br/>Child<br/>Copper--deficiency<br/>DNA Mutational Analysis<br/>Electron Transport Complex IV--metabolism<br/>Female<br/>Fibroblasts--metabolism<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>Mice<br/>Mice, Inbred C57BL<br/>Mice, Transgenic<br/>Mitochondrial Proteins--genetics<br/>Models, Molecular<br/>Molecular Chaperones<br/>Mutation--genetics<br/>Oxygen Consumption--genetics<br/>Sciatic Nerve--metabolism